Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review

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INTRODUCTION: All people with the rare, inherited, lysosomal disease mucopolysaccharidosis type II (MPS II) experience somatic manifestations, and approximately two-thirds develop neurological and cognitive impairment. There is a well-documented need for novel therapies that target the central nervous system, but it is also clear that, despite enzyme replacement therapy having been available since 2006, somatic manifestations continue to have a substantial impact on quality of life, morbidity, and life expectancy. We conducted a targeted literature review to characterize the unmet needs related to the diagnosis, treatment, and monitoring of the somatic aspects of MPS II. METHODS: This review was conducted between July and September 2024. Peer-reviewed publications, abstracts, reports, and posters published between 2006 and 2024 were included. Records were identified from Embase, MEDLINE, and expert sources. Abstracts were screened, and full-text review, citation cross-check, and data extraction were performed. RESULTS: Of 1293 records identified, 365 were included for data extraction. The analysis identified four major unmet needs: (1) a lack of guidelines and recommendations to help enable early diagnosis and treatment initiation, and to advise on monitoring of disease progression and treatment effectiveness; (2) limitations in the ability of current treatments to address somatic manifestations that can lead to premature death, significant morbidity, and impaired quality of life; (3) a lack of strategies and guidelines for the transition from pediatric care to adult care; and (4) significant treatment- and disease-associated burden that affects people with MPS II and their caregivers. CONCLUSIONS: Significant unmet needs persist in the management of somatic manifestations of MPS II, despite the availability of approved therapies and irrespective of cognitive status. Consideration of these needs should help guide the development of novel disease management strategies, ultimately improving care for people with MPS II.

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